MCID: MTH003
MIFTS: 14

Methylmalonic Aciduria and Homocystinuria Type Cble

Categories: Metabolic diseases

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria Type Cble

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria Type Cble:

Name: Methylmalonic Aciduria and Homocystinuria Type Cble 12 17

Classifications:



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Disease Ontology 12 DOID:0050732

Summaries for Methylmalonic Aciduria and Homocystinuria Type Cble

Disease Ontology : 12 A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has material basis in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria Type Cble is related to homocystinuria and methylmalonic aciduria and homocystinuria type cblg. An important gene associated with Methylmalonic Aciduria and Homocystinuria Type Cble is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Metabolism of water-soluble vitamins and cofactors.

Related Diseases for Methylmalonic Aciduria and Homocystinuria Type Cble

Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 homocystinuria 9.8 MTR MTRR
2 methylmalonic aciduria and homocystinuria type cblg 9.8 MTR MTRR
3 disorders of intracellular cobalamin metabolism 9.8 MTR MTRR
4 neural tube defects 9.8 MTR MTRR
5 neural tube defects, folate-sensitive 9.8 MTR MTRR
6 transcobalamin ii deficiency 9.7 MTR MTRR
7 homocysteinemia 9.7 MTR MTRR
8 anencephaly 9.7 MTR MTRR
9 megaloblastic anemia 9.6 MTR MTRR
10 vascular disease 9.5 MTR MTRR

Graphical network of the top 20 diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble:



Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria Type Cble

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria Type Cble

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria Type Cble

Genetic Tests for Methylmalonic Aciduria and Homocystinuria Type Cble

Anatomical Context for Methylmalonic Aciduria and Homocystinuria Type Cble

Publications for Methylmalonic Aciduria and Homocystinuria Type Cble

Variations for Methylmalonic Aciduria and Homocystinuria Type Cble

Expression for Methylmalonic Aciduria and Homocystinuria Type Cble

Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria Type Cble.

Pathways for Methylmalonic Aciduria and Homocystinuria Type Cble

Pathways related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 MTR MTRR
2
Show member pathways
11.97 MTR MTRR
3
Show member pathways
11.66 MTR MTRR
4
Show member pathways
11.41 MTR MTRR
5
Show member pathways
11.25 MTR MTRR
6
Show member pathways
10.92 MTR MTRR
7 9.95 MTR MTRR

GO Terms for Methylmalonic Aciduria and Homocystinuria Type Cble

Biological processes related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.16 MTR MTRR
2 cobalamin metabolic process GO:0009235 8.96 MTR MTRR
3 methionine biosynthetic process GO:0009086 8.62 MTR MTRR

Sources for Methylmalonic Aciduria and Homocystinuria Type Cble

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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